Results 11 to 20 of about 201,515 (211)
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro +72 morewiley +1 more sourceMagnetic and Structural Response Tuned by Coexisting Mn Concentration‐Dependent Phases in MnBi2Te4 Thin Film Grown on GaAs(001) by Molecular Beam Epitaxy
Advanced Functional Materials, EarlyView.The study explores structural and magnetic properties of one of the most recent topological quantum materials (MnBi2Te4). The Mn‐poor structure leads to stacking faults (quintuple layer ‐ QL of Bi2Te3 formation instead of a septuple layer ‐ SL of MnBi2Te4), resulting in a coexistence between weak antiferromagnetism and ferromagnetism.Wesley F. Inoch, Sergio L. A. Mello, Gilberto Rodrigues‐Junior, Sukarno O. Ferreira, Marcelo M. Sant'Anna, Benjamin R. Salles, Mateus T. Souza, Sérgio L. Morelhão, Maybi F. Sampaio, Bráulio S. Archanjo, Leonarde N. Rodrigues +10 morewiley +1 more sourceMultimodal Cross‐Attentive Graph‐Based Framework for Predicting In Vivo Endocrine Disruptors
Advanced Science, EarlyView.A multimodal cross‐attentive graph neural network integrates molecular graphs with androgen and estrogen adverse outcome pathway (AOP)–anchored in vitro assay signals to predict in vivo endocrine disruption. By fusing information on Tier‐1 AOP logits with chemical structures, the framework achieves high accuracy and provides assay‐traceable ...Eder Soares de Almeida Santos, Gustavo Felizardo Santos Sandes, Artur Christian Garcia da Silva, Holli‐Joi Martin, Eugene N. Muratov, Rodolpho de Campos Braga, Bruno Junior Neves +6 morewiley +1 more sourcePareceristas v. 30, n. 1
Estudos Sociedade e Agricultura, 2022
Lista dos pareceristas que contribuíram avaliando artigos durante o período de elaboração deste número da revista Estudos Sociedade e Agricultura (v. 30, n. 1, janeiro a junho de 2022, publicação contínua).doaj +2 more sourcesSilicosis, Sarcoidosis, and Silicosarcoidosis Are Overlapping Diagnoses and Difficult to Differentiate
American Journal of Industrial Medicine, EarlyView.ABSTRACT
We evaluated 12 workers with documented exposure to respirable crystalline silica who were referred to a tertiary care center due to clinical suspicion of silicosis, sarcoidosis, or silicosarcoidosis. Although silica exposure is a well‐established risk factor for silicosis and has been associated with autoimmune diseases, mycobacterial ...Guilherme Ward Leite, Eduardo Kaiser Ururahy Nunes Fonseca, Rodrigo Caruso Chate, Lavinia Clara Del Roio, Sofia de Paiva Memento Machado, Jefferson Benedito de Freitas, Ronaldo Adib Kairalla, Mário Terra‐Filho, Ubiratan Paula Santos, Rafael Futoshi Mizutani +9 morewiley +1 more sourceExpanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra +35 morewiley +1 more sourcePerformatividade e gênese da cena
Revista Brasileira de Estudos da Presença, 2013
A partir do reconhecimento da tensão entre realidade e ficção recorrente na cena contemporânea, em geral definida como teatros do real, pretende-se ensaiar neste texto uma intersecção desse fenômeno com o campo teórico da performatividade, cuja ...Sílvia Fernandes (Universidade de São Paulo - São Paulo, Brasil)doaj An ultra‐processed food‐based cafeteria diet induces obesity, metabolic dysfunction, and tissue‐specific gene dysregulation in C57BL/6 mice
Animal Models and Experimental Medicine, EarlyView.This schematic figure illustrates the experimental design and key findings of the study. Forty male C57BL/6 mice were assigned to either a standard diet control group or a cafeteria diet (CAFD) group for 16 weeks. CAFD induces obesity, insulin resistance (HOMA‐IR), hepatic steatosis, and dysregulation of a number of genes in visceral and subcutaneous ...Guilherme Coutinho Kullmann Duarte, Daisy Crispim, Shiva Cerutti Wittée, Joana Raquel Nunes Lemos, Natalia Emerim Lemos, Mayara Souza de Oliveira, Melissa Daniele Alves, Eloísa Toscan Massignam, Tais Silveira Assmann, Felipe Mateus Pellenz +9 morewiley +1 more sourceA Cost‐Effective Hybrid Method For Homogeneous Matrix Coating in Matrix‐Assisted Laser Desorption/Ionization Mass Spectrometry Imaging Using Simultaneous Spin and Spray Deposition
Analysis &Sensing, EarlyView.This study introduces an in‐house spin coater for matrix‐assisted laser desorption/ionization mass spectrometry imaging, providing homogeneous matrix deposition via simultaneous spray and spin. The approach yields reproducible signals and clear metabolite distributions in complex tissues.Lanaia Ítala Louzeiro Maciel, Jussara Valente Roque, Almir Custodio Batista Junior, Gabriel Henry Morais Dufrayer, Naará da Silva Balbino, Keilah Valéria Naves Cavalcante, Marcos Divino Ferreira Junior, Andrea Rodrigues Chaves, Boniek Gontijo Vaz +8 morewiley +1 more sourceUm Diálogo às Margens do Ganges: Gordon Craig e Ananda Coomaraswamy
Revista Brasileira de Estudos da Presença, 2014
O artigo analisa o diálogo entre Edward Gordon Craig e Ananda Coomaraswamy, historiador de arte indiana, como ponto inaugural do universo investigativo conhecido como teatro intercultural e as consequências desse diálogo no pensamento do diretor inglês, Almir Ribeiro (Universidade de São Paulo, São Paulo/SP, Brasil)doaj